Variant report
| Variant | esv3437847 |
|---|---|
| Chromosome Location | chr4:47633054-47633370 |
| allele | n/a |
| Outlinks | Ensembl UCSC |
- TF binding region (count:0)
- CpG islands (count:0)
- Chromatin interactive region (count:0)
- LncRNA region (count:0)
- Mature miRNA region (count: 0)
- miRNA target sites (count:0)
| No data |
| No data |
| No data |
| No data |
| No data |
| No data |
| No data |
Variant overlapped rSNPs/rCNVs (count:13 , 50 per page) page:
1
| No. | Variant name | Chromosome position | Chromatin state | Related regulatory elements | Target genes | Extended variants | Associated traits |
|---|---|---|---|---|---|---|---|
| 1 | rs1875824 | chr4:47633056-47633057 | Weak transcription | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
| 2 | rs566042835 | chr4:47633094-47633095 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 3 | rs540055440 | chr4:47633098-47633099 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 4 | rs6447571 | chr4:47633117-47633118 | Weak transcription | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | mRNA abundance |
| 5 | rs551401778 | chr4:47633138-47633139 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 6 | rs139569522 | chr4:47633144-47633145 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 7 | rs34714189 | chr4:47633176-47633177 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 8 | rs371960544 | chr4:47633177-47633178 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 9 | rs3053210 | chr4:47633178-47633179 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 10 | rs537372916 | chr4:47633194-47633195 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 11 | rs555621223 | chr4:47633198-47633199 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 12 | rs574239143 | chr4:47633335-47633336 | Enhancers Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 13 | rs7695074 | chr4:47633361-47633362 | Enhancers Weak transcription | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
Variant related diseases (count:64)
| Disease | PMID | Source |
|---|---|---|
| Colorectal cancer | 19359472 | CNVD |
| Neuroblastoma | 17533364 | CNVD |
| Oral squamous cell carcinoma | 17134496 | CNVD |
| head and neck squamous cell carcinoma | 17671120 | CNVD |
| Cancer | 21637783 | CNVD |
| Melanoma | 21693616 | CNVD |
| Squamous cell cancer | 21044232 | CNVD |
| Colorectal cancer | 20709793 | CNVD |
| Esophageal squamous carcinoma | 21637470 | CNVD |
| Non-small cell lung cancer | 21044232 | CNVD |
| Ewing''s sarcoma | 21437220 | CNVD |
| Glioblastoma multiforme | 17387387 | CNVD |
| Endometrial cancer | 22040021 | CNVD |
| Breast cancer | 21264507 | CNVD |
| Glioblastoma multiforme | 19960244 | CNVD |
| Cervical cancer | 21062161 | CNVD |
| Gastrointestinal stromal cancer | 16982739 | CNVD |
| Acute lymphoblastic leukemia | 22237106 | CNVD |
| Glioblastoma multiforme | 21080181 | CNVD |
| Chordoma | 21602918 | CNVD |
| HIV/AIDS | 22032296 | CNVD |
| Medulloblastoma | 21979893 | CNVD |
| Neuroblastoma | 18923191 | CNVD |
| Hodgkin''s lymphoma | 17606441 | CNVD |
| Thoracic aortic aneurysm | 21092924 | CNVD |
| Intellectual disability | 22102821 | CNVD |
| Autism | 22495311 | CNVD |
| Lung cancer | 18438408 | CNVD |
| Wilms tumour | 21544195 | CNVD |
| Breast cancer | 21858162 | CNVD |
| small cell lung cancer | 20016488 | CNVD |
| Small bowel adenocarcinoma | 21586687 | CNVD |
| Gastric cancer | 21586687 | CNVD |
| lymphocytic leukemia | 21291569 | CNVD |
| Basal cell lymphoma | 16317097 | CNVD |
| Diffuse large b-cell lymphoma | 16317097 | CNVD |
| Breast cancer | 16608533 | CNVD |
| Non-small cell lung cancer | 21829676 | CNVD |
| Melanoma | 22183965 | CNVD |
| Olfactory neuroblastoma | 18408657 | CNVD |
| Cancer | 22183965 | CNVD |
| Melanoma | 18172304 | CNVD |
| Acute lymphoblastic leukemia | 20067559 | CNVD |
| Renal cell carcinoma | 18194544 | CNVD |
| Breast cancer | 17603634 | CNVD |
| Glioblastoma multiforme | 21922591 | CNVD |
| T-cell prolymphocytic leukemia | 19278963 | CNVD |
| Multiple myeloma | 16616336 | CNVD |
| Parkinson disease | 21956041 | CNVD |
| Mental retardation | 20522426 | CNVD |
| delayed speech | 20522426 | CNVD |
| growth disorder | 20522426 | CNVD |
| Hepatocellular carcinoma | 16750200 | CNVD |
| Myxofibrosarcoma | 16751306 | CNVD |
| Endometrioid adenocarcinoma | 16974079 | CNVD |
| Esophageal squamous carcinoma | 18350619 | CNVD |
| Acute lymphoblastic leukemia | 21339820 | CNVD |
| Acute myeloid leukemia | 20729466 | CNVD |
| Renal cell carcinoma | 18765545 | CNVD |
| Gastric cancer | 16891809 | CNVD |
| Myelofibrosis | 22110671 | CNVD |
| Hirschsprung''s Disease | 21712996 | CNVD |
| Pancreatic cancer | 17952125 | CNVD |
| Breast cancer | 22522925 | CNVD |
| No. | Chromosome Location | Chromatin state | Cell line | Tissue |
|---|---|---|---|---|
| 1 | chr4:47601800-47641000 | Weak transcription | Fetal Heart | heart |
| 2 | chr4:47618000-47641400 | Weak transcription | Left Ventricle | heart |
| 3 | chr4:47618600-47645400 | Weak transcription | Right Ventricle | heart |
| 4 | chr4:47625800-47641600 | Weak transcription | Aorta | Aorta |
| 5 | chr4:47626000-47641400 | Weak transcription | HSMM | muscle |
| 6 | chr4:47626400-47641600 | Weak transcription | HSMMtube | muscle |
| 7 | chr4:47627000-47641400 | Weak transcription | Muscle Satellite Cultured Cells | -- |
| 8 | chr4:47627600-47642600 | Weak transcription | Bone Marrow Derived Cultured Mesenchymal Stem Cells | Bone marrow |
| 9 | chr4:47632000-47633200 | Weak transcription | H1 Derived Neuronal Progenitor Cultured Cells | ES cell derived |
| 10 | chr4:47633200-47633800 | Enhancers | H1 Derived Neuronal Progenitor Cultured Cells | ES cell derived |
